What is Nevus Flammeus (Port Wine Stain)?
A Port-wine stain or Nevus flammeus is a type of birthmark that shows up at birth as a splotch of red or pink skin. This mark isn’t a sign of cancer or abnormal cell growth but caused by an overgrowth of small blood vessels in the skin, causing a pink or red patch. This skin condition can appear anywhere on the body and usually lasts a lifetime.
The Port-wine stain is a clear, often one-sided, or sometimes centrally located pink to red patch that is visible on the face at birth. This is due to the formation of capillary-like vessels that are not normally shaped. There’s another similar condition known as a nevus simplex or salmon patch, which usually appears along the center of the body and fades over time. It’s important to differentiate between the two.
A Port-wine stain can sometimes develop later in life, usually after a trauma. Although these birthmarks appear the same both visually and under a microscope, they are not the same as the ones that individuals are born with.
While Port-wine stains are harmless and the diagnosis is usually based on a visual examination, sometimes a more in-depth evaluation and imaging scans are carried out. This is especially true when the Port-wine stain is associated with other skin, soft tissue, bone, and blood vessel irregularities.
What Causes Nevus Flammeus (Port Wine Stain)?
The cause of nevus flammeus, also known as birthmarks with a red or purple color, is not completely understood. While most instances of nevus flammeus occur unexpectedly, there have been cases reported within families. Breakthroughs in genetics have helped determine genetic factors that may contribute to the development of this condition.
In particular, a mutation in a gene called GNAQ (found on the 9th chromosome at location 9q21.2) has been linked to both isolated nevus flammeus and a condition known as Sturge-Weber syndrome.
For a syndrome known as capillary malformation-arteriovenous malformation, mutations in the genes RASA1 and EPHB4 have been identified. There are also genetics syndromes caused by mutations in PIK3CA genes such as CLOVES syndrome, Klippel-Trenaunay syndrome, and macrocephaly-capillary malformation. Additionally, Proteus syndrome is known to be caused by mutations in AKT1, and GNA11 mutation can cause diffuse capillary malformation with overgrowth, where parts of the body grow out of proportion.
There is also evidence to suggest that excessive activity in nerve cells and an overproduction of proteins known as vascular endothelial growth factors (VEGF) may contribute to the development of nevus flammeus.
In rare instances, Nevus flammeus can develop after a physical injury, a condition known as “Fegeler syndrome.”
Risk Factors and Frequency for Nevus Flammeus (Port Wine Stain)
A port-wine stain, commonly known as PWS, is a typical type of blood vessel irregularity. It usually shows up at birth, affecting around 0.3% to 0.5% of newborn babies, and is often found on the head and neck. There is no indication that PWS favors one gender over the other.
Signs and Symptoms of Nevus Flammeus (Port Wine Stain)
Port Wine Stain (PWS) is a common type of vascular malformation that often shows as painless, red or pink patches on the skin which do not bleed. These patches are typically present at birth and remain throughout life. Most frequently, they are found on the skin of the head and neck (70-90% of cases), but they can also appear on the trunk, extremities or even the mucous membranes. They can range in size, be singular or multiple, and may affect one or both sides of the body.
As a child grows, these patches grow alongside them and often darken and thicken as they age. Occasionally, underlying tissues like fat, muscle, and bone may also grow in size. This is most often seen with facial PWS.
PWS is usually present as the sole vascular malformation; however, it can be part of other genetic syndromes for those with additional congenital problems. This includes conditions such as Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, CLOVES Syndrome, Proteus Syndrome, Diffuse Capillary Malformation with Overgrowth, Capillary Malformation-Arteriovenous Malformation Syndrome, Parkes-Weber Syndrome, Macrocephaly-Capillary Malformation Syndrome, Phakomatosis Pigmentovascularis and CLAPO Syndrome.
For example, Sturge-Weber Syndrome results in PWS, vascular abnormalities in the lining of the brain and/or the eyes. It often leads to seizures, learning difficulties and eye problems. Klippel-Trenaunay Syndrome involves a combined vascular malformation with enlarged bone and soft tissues, most commonly in the lower limbs. It can lead to blood clotting and hypertension. Another example is Proteus Syndrome which results in overgrowth of various body parts, including vascular malformations, bony enlargement, abnormal fat distribution, and skin markings.
It’s important for doctors to monitor PWS and any associated syndromes carefully for potential complications and to ensure appropriate treatment is provided.
Testing for Nevus Flammeus (Port Wine Stain)
Port Wine Stains (PWS), which are easily recognizable skin marks, are usually identified at birth. However, the process can become more challenging if these marks accompany other skin changes or abnormalities in the body’s soft tissues or blood vessels.
To pinpoint these other changes, doctors can use a type of ultrasound that shows blood flow through the body. This tool can help identify blood vessel abnormalities that might look like PWS.
In some instances, doctors might use imaging techniques like Computed Tomography (CT scan), Magnetic Resonance Imaging (MRI), or Magnetic Resonance Angiography (MRA). These methods can help find any irregularities either on the surface of the body or deeper within. These imaging techniques also help in understanding the severity of these abnormalities, map their locations, and confirm the diagnosis.
A biopsy, the process of taking a small sample of body tissue for examination, is not typically used in diagnosing PWS, but it can be employed to differentiate PWS from similar conditions, confirm the diagnosis of PWS developed later in life, or analyze tissue for genetic research. Additional examination may be required if the PWS is suspected to be part of a separate medical syndrome.
Treatment Options for Nevus Flammeus (Port Wine Stain)
A port wine stain (PWS) is a type of benign (non-cancerous) birthmark, often found on the face, which is not harmful but can be distressing due to its appearance. Because of this, many people opt for treatment, particularly if the birthmark causes the skin to thicken.
Lasers are commonly used to treat PWMs. They work by targeting the blood-filled vessels in the birthmark, heating them to cause the red blood cells to break down. This results in a lightening of the birthmark’s colour. It’s generally advised to start this treatment in early infancy for best results and to prevent the birthmark from thickening or causing disfigurement to the skin. Sometimes, however, the birthmark may darken, and further treatment is needed.
The most effective laser for treating PWMs is the short pulsed dye laser (PDL). Alongside the laser treatment, a cooling spray is also applied to the skin to reduce any pain from the procedure and allow a safer application of the laser. The treatment may have to be repeated every one to three months, and you’ll likely see a temporary swelling, bruising, or redness in the treated area. In some cases, overlapping laser pulses might cause minor blistering and crusting. It’s important to note eye protection is essential during the procedure to prevent any damage. Scarring, changes in skin pigment, and hair loss are less common but more permanent side effects.
The success of the treatment can also depend on few factors:
- The part of the body the PWS is present
- The size of the PWS – smaller marks respond better
- The color – red PWS respond better than deeper purple ones
- The texture – thicker or nodular PWS need particular types of lasers
- The presence of melanin – darker skin can absorb the laser energy and reduce its effectiveness
In some cases, it might be recommended to use other types of lasers that can penetrate deeper into the skin to treat larger, darker or nodular PWMs. However, these lasers may have a slightly higher risk of causing scars or pigment changes.
Photodynamic therapy (PDT) is another option, which involves using a special drug that makes your skin more sensitive to light, followed by exposure to a specific wavelength of light. This technique can target the unwanted vessels without hurting the top layer of skin, and is thought to be as effective, if not more so, than laser treatment. Additionally, scientists are exploring the possibility of using anti-angiogenesis drugs (which stop new blood vessels from forming) alongside laser therapy to further improve results.
Finally, if a port wine stain has caused thickening or nodularity of the skin, another type of laser called an ablative laser may be useful. In some severe cases, surgical correction might be required. Other, older treatments, like skin grafting and tattooing, are less commonly used now due to their poor cosmetic outcomes.
What else can Nevus Flammeus (Port Wine Stain) be?
When trying to correctly identify a birthmark called nevus flammeus, doctors might need to rule out several other skin conditions that might look similar. These include:
- Salmon patch
- Early hemangioma
- Arteriovenous malformation
- Tufted angioma
- Eccrine angiomatous hamartoma
- Cutis marmorata telangiectatica congenita
- Segmental infantile hemangioma, which might require further tests for PHACES. PHACES is a group of abnormalities affecting the back of the brain (Posterior fossa malformations), blood vessels (Hemangioma and Arterial anomalies), the heart and the large artery that carries blood from the heart to the rest of the body (Coarctation of the aorta/cardiac defects), the eyes (Eye abnormalities), and abnormalities of the chest and spine (Sternal malformations).
- Nevus simplex
What to expect with Nevus Flammeus (Port Wine Stain)
Isolated PWS, or Port-Wine Stains, are generally harmless and usually only cause cosmetic issues. Beginning laser treatment at an early age is beneficial because it becomes harder to treat as the patient ages and the skin thickens. However, if the PWS is linked with other blood vessel abnormalities or a specific syndrome, a diagnosis must be made. This is essential for recognizing and managing any skin complications or internal issues early, which can lessen their impact on the patient’s quality of life. The seriousness of these additional issues influences the patient’s overall prognosis, or the likely course and outcome of the condition.
Possible Complications When Diagnosed with Nevus Flammeus (Port Wine Stain)
In simple terms, if you have periocular PWS, which affects the area around the eyes, you may be more prone to developing glaucoma. Patients may also notice an abnormal growth of soft tissue or bones, leading to differences in body symmetry and limb lengths that may impact their daily lives or appearances as they age. This condition could even affect the mouth, causing overgrown gums and making it more likely for patients to have gum diseases and poor dental hygiene.
Additionally, a condition known as pyogenic granuloma might occur. This presents as a single nodule on a PWS that is often uncomfortable and could bleed easily after minor trauma. This condition is more common in adulthood, and can appear after an injury, taking oral contraceptive pills, or while pregnant. Other reported complications related to PWS include tufted angioma, which is an unusual blood vessel growth, and eczema, which tends to worsen in PWS areas.
Perhaps one of the most overlooked aspects of PWS is the emotional impact it can have. If the condition appears on the face, it can lead to low self-esteem and mental stress due to the stigma surrounding visible skin conditions. Moreover, patients may experience a range of other complications and conditions when vascular malformations or syndromes are also present.
Potential complications include:
- Glaucoma
- Abnormal growth of soft tissue or bones
- Skeletal asymmetry and limb length discrepancies
- Gingival hyperplasia (gums overgrowth)
- Periodontal disease and poor dental hygiene
- Pyogenic granuloma
- Tufted angioma
- Eczema
- Mental stress and low self-esteem
Other complications and conditions may occur if the patient has combined vascular malformations and syndromes.
Preventing Nevus Flammeus (Port Wine Stain)
When a newborn baby has a red mark on their skin, it’s often harmless, but it can worry parents. It’s important to reassure parents, but also let them know how the mark might change over time and if there may be any related complications. Parents should also be made aware of any signs and symptoms that the child might show which would require an early visit to a healthcare provider.
It’s especially important to have regular check-ups for conditions like PWS (a birthmark on the eyelids), combined blood vessel abnormalities, or any syndrome where there’s a higher risk of complications. If treatment is necessary, parents should be fully informed about all the different options, including what the benefits and drawbacks of each are. They should also be advised about the importance of starting treatment early to ensure the best possible outcome for their child.
